Canonical Allele Identifier: CA38861251
Gene: CAPN9 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.230759550C>T
GRCh38 chr1:g.230759550_230759555delinsTTTAAT
GRCh37 chr1:g.230895296C>T
GRCh37 chr1:g.230895296_230895301delinsTTTAAT
Revel Score:
ENST00000271971 (MANE Select) 0.286
ENST00000354537 0.286
gnomAD v2:
1:230895296 C / T
gnomAD v3:
1:230759550 C / T
gnomAD v4:
chr1-230759550-C-T
Joint Max Group AF 0.00000556 (AMR)
Exomes Max Group AF 0.00000747 (AMR)
ClinVar RCV:
RCV004103850
ClinVar Variation:
2243922
dbSNP:
1048809170
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230759550C>T , CM000663.2:g.230759550C>T GRCh38
NC_000001.10:g.230895296C>T , CM000663.1:g.230895296C>T GRCh37
NC_000001.9:g.228961919C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000271971.7:c.322C>T MANE Select ENSP00000271971.2:p.Leu108Phe
ENST00000271971.6:c.322C>T ENSP00000271971.2:p.Leu108Phe
ENST00000354537.1:c.322C>T ENSP00000346538.1:p.Leu108Phe
ENST00000366666.6:c.214-3103C>T ENSP00000355626.2:n.214-3103C>T
NM_006615.2:c.322C>T NP_006606.1:p.Leu108Phe
NM_016452.1:c.322C>T NP_057536.1:p.Leu108Phe
XM_005273010.2:c.214-3103C>T XP_005273067.1:n.214-3103C>T
XM_011544017.1:c.322C>T XP_011542319.1:p.Leu108Phe
XM_011544018.1:c.322C>T XP_011542320.1:p.Leu108Phe
XM_011544019.1:c.214-3103C>T XP_011542321.1:n.214-3103C>T
XM_011544020.1:c.-264C>T XP_011542322.1:n.-264C>T
XR_949127.1:n.419C>T
NM_001319676.1:c.214-3103C>T NP_001306605.1:n.214-3103C>T
NM_016452.2:c.322C>T NP_057536.1:p.Leu108Phe
XM_011544019.2:c.214-3103C>T XP_011542321.1:n.214-3103C>T
XM_017000098.1:c.322C>T XP_016855587.1:p.Leu108Phe
XM_017000099.1:c.-264C>T XP_016855588.1:n.-264C>T
XR_001736933.1:n.419C>T
NM_006615.3:c.322C>T MANE Select NP_006606.1:p.Leu108Phe
NM_001319676.2:c.214-3103C>T NP_001306605.1:n.214-3103C>T
NM_016452.3:c.322C>T NP_057536.1:p.Leu108Phe
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